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Achromatopsia 3 (sequence analysis of CNGB3 gene)
CNGB3
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Specimen Requirements
| Descriptive |
Volume / Concentration 1 |
Container |
Transport temperature |
Sample viability (days) 2 |
|---|---|---|---|---|
| DNA | ≥ 100 µL [50 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
| Peripheral blood | ≥ 3 mL | EDTA | Room temp. | 5 |
1
When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2
Maximum shipping time to ensure sample quality
Turnaround Time (Days)
- 60
Specialties
- Rare diseases, Ophthalmology, Pediatrics
CGC Reference
- 2953
Associated Tests
Achromatopsia (NGS panel of 6 genes)
Genetic carrier test (NGS panel of 101 genes)
Stargardt disease and macular dystrophy (NGS panel of 15 genes)
Cone rod dystrophy (NGS panel of 36 genes)
Premium genetic test of carriers, woman